Article
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Genome medicine - 12 Apr 2021
Yap Zheng Yie, Park Yo Han, Wortmann Saskia B, Gunning Adam C, Ezer Shlomit, Lee Sukyeong, Duraine Lita, Wilichowski Ekkehard, Wilson Kate, Mayr Johannes A, Wagner Matias, Li Hong, Kini Usha, Black Emily Davis, Monaghan Kristin G, Lupski James R, Ellard Sian, Westphal Dominik S, Harel Tamar, Yoon Wan Hee
Abstract excerpt
BACKGROUND: ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholesterol metabolism. Biallelic deletions (null), recessive missense variants (hypomorph), and heterozygous missense variants or duplications (antimorph) in ATAD3A lead to neurological...
Topics
- ATPases Associated with Diverse Cellular Activities
- Adolescent
- Alleles
- Amino Acid Sequence
- Animals
- Autophagy
- Computer Simulation
- Drosophila
- Female